Articles with "chromosome syndrome" as a keyword



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Assessing the role of ketogenic dietary therapy in ring chromosome 20 syndrome: A patient‐led approach

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Published in 2020 at "Epilepsia Open"

DOI: 10.1002/epi4.12387

Abstract: Ring chromosome 20 syndrome (r(20)) is an ultra‐rare disease characterized by drug‐refractory epilepsy, cognitive impairment, and behavioral problems. Nonpharmacological treatments alongside antiepileptic drugs early after diagnosis may help reduce seizure frequency and preserve cognition. Ketogenic… read more here.

Keywords: ketogenic dietary; dietary therapy; ring chromosome; kdt ... See more keywords
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Ring chromosome 14 syndrome: what the dentist should know to manage children with r(14) effec-tively.

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Published in 2023 at "Folia medica"

DOI: 10.3897/folmed.65.e71784

Abstract: INTRODUCTION Ring chromosome 14 syndrome, or r(14), is a rare genetic disorder characterized by distinctive facial features, intractable epilepsy, delayed development, intellectual disability, and autism spectrum disorder. With less than 100 documented cases worldwide, the… read more here.

Keywords: syndrome dentist; ring chromosome; manage children; chromosome syndrome ... See more keywords